{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T20:39:22Z","timestamp":1793824762989,"version":"4.6.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T00:00:00Z","timestamp":1674604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["ZIA\u2010HD009003\u201001"],"award-info":[{"award-number":["ZIA\u2010HD009003\u201001"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Capillary malformations are slow\u2010flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including <jats:italic>PIK3CA<\/jats:italic>, <jats:italic>GNAQ<\/jats:italic>, and <jats:italic>GNA11<\/jats:italic>. Recently, a somatic pathogenic variant in <jats:italic>AKT3<\/jats:italic> was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Here, we present a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in <jats:italic>AKT3<\/jats:italic> to confirm this association. It is essential to consider that mosaic pathogenic variants in <jats:italic>AKT3<\/jats:italic> can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism.<\/jats:p>","DOI":"10.1002\/ajmg.a.63121","type":"journal-article","created":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T10:29:36Z","timestamp":1674642576000},"page":"1442-1446","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mosaic pathogenic variants in <scp><i>AKT3<\/i><\/scp> cause capillary malformation and undergrowth"],"prefix":"10.1002","volume":"191","author":[{"given":"Amber","family":"Bolli","sequence":"first","affiliation":[{"name":"Comprehensive Vascular Anomaly Program Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bede","family":"Nriagu","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomaly Program Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison D.","family":"Britt","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomaly Program Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjali D.","family":"Toole","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Treat","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomaly Program Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Section of Dermatology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhay","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomaly Program Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-8123","authenticated-orcid":false,"given":"Sarah E.","family":"Sheppard","sequence":"additional","affiliation":[{"name":"Unit on Vascular Malformations, Division of Intramural Research Eunice Kennedy Shriver National Institute of Child Health and Human Development  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx203"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14252"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2021.06.877"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31736"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13147"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2011.05.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2008.03074.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.05.030"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14095"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14787"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-3673"}],"container-title":["American 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